Mutagenetix > Incidental Mutation

Incidental Mutation 'R8749:Tmem100'

663722

Institutional Source

Beutler Lab

Gene Symbol

Tmem100

Ensembl Gene

ENSMUSG00000069763

Gene Name

transmembrane protein 100

Synonyms

1810057C19Rik

MMRRC Submission

068592-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89921174-89927334 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89926574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 134 (A134T)

Ref Sequence

ENSEMBL: ENSMUSP00000090464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092788]

AlphaFold

Q9CQG9

Predicted Effect

probably damaging
Transcript: ENSMUST00000092788
AA Change: A134T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090464
Gene: ENSMUSG00000069763
AA Change: A134T

Domain	Start	End	E-Value	Type
Pfam:TMEM100	1	133	7.8e-64	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (59/59)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutations display prenatal lethality. Mice homozygous for one null mutation display defects in arterial differentiation and maturation and complete lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	C	T	13: 4,320,155 (GRCm39)		probably benign	Het
Ap3b1	T	A	13: 94,664,725 (GRCm39)	M888K	unknown	Het
Arhgap23	T	A	11: 97,391,641 (GRCm39)	V223E	probably damaging	Het
Atm	C	T	9: 53,410,497 (GRCm39)	W1028*	probably null	Het
Atp7b	A	G	8: 22,518,334 (GRCm39)	V168A	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Caskin1	C	T	17: 24,723,774 (GRCm39)	A854V	probably benign	Het
Cdcp1	T	C	9: 123,019,027 (GRCm39)	N84S	probably benign	Het
Cdh20	T	A	1: 110,027,009 (GRCm39)	I475N	probably damaging	Het
Ciz1	A	T	2: 32,255,848 (GRCm39)	Y107F	probably benign	Het
Creb3l4	T	C	3: 90,145,199 (GRCm39)	N318D	probably benign	Het
Dmrt3	G	A	19: 25,588,550 (GRCm39)	A130T	probably benign	Het
Dmxl1	A	T	18: 50,088,937 (GRCm39)	K2805N	probably damaging	Het
Dusp15	T	A	2: 152,788,209 (GRCm39)	I63F	probably damaging	Het
Dync2h1	T	C	9: 7,035,063 (GRCm39)	Q3462R	probably benign	Het
Evpl	A	G	11: 116,120,232 (GRCm39)	C569R	probably benign	Het
Fmnl3	A	T	15: 99,219,322 (GRCm39)	M766K	possibly damaging	Het
G6pc2	A	G	2: 69,057,140 (GRCm39)	N262S	probably damaging	Het
Galk1	A	T	11: 115,899,762 (GRCm39)	L325Q	probably damaging	Het
H3c3	T	C	13: 23,929,108 (GRCm39)	I125V	probably benign	Het
Hr	G	A	14: 70,795,510 (GRCm39)	G352R	probably damaging	Het
Il12b	A	T	11: 44,294,864 (GRCm39)	M1L	not run	Het
Lpar6	A	T	14: 73,476,950 (GRCm39)	M304L	probably benign	Het
Mpeg1	G	A	19: 12,439,291 (GRCm39)	A250T	probably benign	Het
Mtcl3	T	C	10: 29,072,721 (GRCm39)	I671T	possibly damaging	Het
Neb	T	C	2: 52,180,863 (GRCm39)	K1221R	probably benign	Het
Ogfrl1	T	A	1: 23,409,399 (GRCm39)	I276F	probably damaging	Het
Or4f62	A	G	2: 111,986,869 (GRCm39)	D191G	possibly damaging	Het
Or4k37	T	C	2: 111,158,817 (GRCm39)	C18R	possibly damaging	Het
Or4x12-ps1	T	C	2: 89,916,631 (GRCm39)	Y58C	probably damaging	Het
Oxr1	A	G	15: 41,574,260 (GRCm39)	N2S	probably benign	Het
P3h3	G	A	6: 124,822,940 (GRCm39)	R505C	probably damaging	Het
Pcdhb16	A	T	18: 37,612,392 (GRCm39)	I451F	possibly damaging	Het
Pet117	C	A	2: 144,215,122 (GRCm39)	D36E	probably benign	Het
Prf1	T	C	10: 61,138,948 (GRCm39)	V302A	probably damaging	Het
Prkdc	G	A	16: 15,601,029 (GRCm39)	A2897T	possibly damaging	Het
Prkra	A	G	2: 76,460,879 (GRCm39)	L273P	probably damaging	Het
Prr30	T	A	14: 101,436,365 (GRCm39)	T66S	probably benign	Het
Slc29a4	A	G	5: 142,700,819 (GRCm39)	Y188C	probably damaging	Het
Spink5	A	T	18: 44,122,425 (GRCm39)	K297*	probably null	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tmem132c	A	G	5: 127,437,003 (GRCm39)	D164G	possibly damaging	Het
Tnfsf18	A	G	1: 161,331,047 (GRCm39)	T66A	possibly damaging	Het
Ubr4	C	T	4: 139,129,935 (GRCm39)	T685I	probably damaging	Het
Uck1	T	C	2: 32,146,524 (GRCm39)	Y185C		Het
Umod	T	A	7: 119,070,639 (GRCm39)	I418F	probably benign	Het
Upp1	A	T	11: 9,079,561 (GRCm39)	S41C	probably damaging	Het
Vmn1r168	A	T	7: 23,240,428 (GRCm39)	Y95F	probably benign	Het
Vmn1r180	G	T	7: 23,652,415 (GRCm39)	D193Y	probably damaging	Het
Vmn2r11	A	G	5: 109,195,319 (GRCm39)	V669A	probably damaging	Het
Vmn2r55	T	A	7: 12,385,796 (GRCm39)	Y728F	probably damaging	Het
Vmn2r78	A	G	7: 86,603,513 (GRCm39)	T564A	possibly damaging	Het
Vps13d	T	A	4: 144,865,183 (GRCm39)	N2057I		Het
Wdfy3	C	T	5: 102,030,446 (GRCm39)	R2354Q	probably damaging	Het
Wdr77	T	A	3: 105,866,975 (GRCm39)	C26S	probably damaging	Het
Yif1b	C	T	7: 28,946,690 (GRCm39)	A267V	probably benign	Het
Zfp316	A	G	5: 143,248,565 (GRCm39)	V227A	unknown	Het
Zfp600	T	A	4: 146,133,151 (GRCm39)	H606Q	unknown	Het
Zfp804a	T	C	2: 82,087,919 (GRCm39)	W583R	probably benign	Het
Zfp961	T	C	8: 72,719,686 (GRCm39)	W39R	probably damaging	Het
Zfp990	T	A	4: 145,264,156 (GRCm39)	C385S	probably damaging	Het

Other mutations in Tmem100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4468001:Tmem100	UTSW	11	89,926,187 (GRCm39)	missense	probably benign	0.01
R2333:Tmem100	UTSW	11	89,926,424 (GRCm39)	missense	probably benign
R4705:Tmem100	UTSW	11	89,926,389 (GRCm39)	missense	probably damaging	1.00
R4819:Tmem100	UTSW	11	89,926,271 (GRCm39)	missense	probably benign	0.00
R7420:Tmem100	UTSW	11	89,926,579 (GRCm39)	makesense	probably null
R7808:Tmem100	UTSW	11	89,926,302 (GRCm39)	missense	probably benign	0.02
R8973:Tmem100	UTSW	11	89,926,302 (GRCm39)	missense	probably benign	0.02
R9364:Tmem100	UTSW	11	89,926,533 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTACAGCTTCAATTCCCATGG -3'
(R):5'- AGCCCTTAGGGTTAAGTTTGTC -3'

Sequencing Primer
(F):5'- AGCTTCAATTCCCATGGTTCCATC -3'
(R):5'- AGATGAGTTATTCCCTACCAAGG -3'

Posted On

2021-03-08